Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057515576
rs1057515576
ARL6
GAAAA 0.700 CausalMutation CLINVAR

dbSNP: rs121917710
rs121917710
GLI3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121918327
rs121918327
BBS12
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553827236
rs1553827236
CC2D2A
A 0.700 CausalMutation CLINVAR

dbSNP: rs386833760
rs386833760
CC2D2A
A 0.700 CausalMutation CLINVAR

dbSNP: rs387906836
rs387906836
TULP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121917714
rs121917714
GLI3
0.010 GeneticVariation BEFREE Both nonsense truncation mutations; p.R792X (GCPS) and p.E1478X (PAP) introduce a premature stop codon leading to loss of C-terminal domains. 26508445

2016